Genetic screening is recommended for at-risk family members of people living with hereditary transthyretin amyloid cardiomyopathy (ATTR-CM), yet the impact of such screening has not been studied. An recent analysis published in the European Heart Journal used genetic testing to evaluate both the extent of screening and the clinical outcomes among relatives of people with all types of hereditary ATTR.
Researchers identified 86 families that had at least one family member (or “proband”) with hereditary ATTR. Cascade genetic screening was then offered to 464 of their at-risk relatives. Among all the relatives screened, 201 people (43%) were found to be genetic carriers of ATTR.
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Clinical assessment showed that 67 carriers (33%) had signs of disease, with neurologic features present in 79% of affected individuals, cardiac features in 64% and ophthalmologic involvement in 12%. Most (95%) of these affected carriers began treatment for ATTR.
A key finding was that relatives diagnosed through screening began treatment at substantially younger ages than the original probands. According to the researchers, affected relatives started treatment at a median age of 56.5 compared to age 66 in probands. Similarly, age at diagnosis was lower among screened relatives (median 53 years) than among probands (66 years).
“Structured systematic cascade genetic screening identifies a median of two genetic carriers per proband and allows diagnosis and treatment at earlier ages in affected relatives,” the authors concluded.
Certain factors were revealed to lower participation in family screening, including older age of the proband at diagnosis, an incidental diagnosis, greater geographic distance from the proband, older age of the relative, male sex and more distant familial relationships.
By identifying these barriers, the study highlights circumstances in which relatives may be less likely to pursue testing — an important consideration given the potential for earlier diagnosis and treatment among those who do.
For families affected by hereditary ATTR, proactive genetic screening offers not only earlier answers but also a clearer path forward.
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